Advancing rare disease diagnosis through AI-driven dysmorphology

Empowering healthcare professionals with AI-driven dysmorphological analysis for rapid and accurate rare disease diagnosis

I led the creation of the user experience (UX) and user interface (UI) for the app on iOS and Android. This involved developing mockups and prototypes and defining user journeys. I also handled the front-end development with Expo, ensuring a fluid, responsive experience, and integrated AI analysis services. My initial work focused on defining and prototyping the entire mobile user experience, specifically how healthcare professionals would interact with the tool to efficiently collect data and interpret complex diagnostic information.

The primary challenge was to transform advanced, AI-based dysmorphological analysis technology from a complex concept into a genuinely usable tool integrated into the daily routines of healthcare professionals via a mobile app. This meant overcoming significant technical hurdles to deliver a simple, reliable, and secure solution that provides tangible assistance in diagnosing rare diseases, which are often elusive and difficult to identify.

AIDY's first release: Equipping doctors to better diagnose sickness

This first version of the AIDY mobile app served as crucial validation for its design and development. This first tangible version of the application allowed clinicians, geneticists, and researchers to directly test its AI-powered diagnostic support, fostering vital communication and feedback. This release clearly benefited all involved: clinicians diagnosed faster and with more confidence, geneticists better correlated data, and researchers gained valuable insights, all leading to quicker, clearer patient diagnoses.

Crucially, real-world user feedback drove UI and workflow refinements and helped establish vital ethical and data privacy protocols, confirming the app's success in making complex AI a practical, collaborative tool for rare disease management.